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Article

The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report.

BMC cardiovascular disorders - 16 Jul 2025

Han Yuanyuan, Wang Haiyan, Zhang Hongsheng, Wang Manman, Gan Lijun, Meng Fanhua

Abstract excerpt

This study reports on a Chinese Han cardiomyopathy family line carrying the MYH7 c.2770G > A (p.Glu924Lys) mutation. This mutation has been shown to result in cross-generational phenotypic heterogeneity between hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM). The proband was a 17-year-old male diagnosed with hypertrophic obstructive cardiomyopathy (HOCM) due to post-exercise syncope, which...

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Source

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Identifiers

PMID: 40670969
DOI: 10.1186/s12872-025-04943-x
PMCID: PMC12265364

Genes

MYH7

Variants

Provenance

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